Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
J Genet Couns. 2024 Oct;33(5):995-1003. doi: 10.1002/jgc4.1815. Epub 2023 Oct 23.
Cincinnati Children's Hospital Medical Center (CCHMC) implemented a Genetic Counseling Clinic (GCC), where the appointment for a general genetics indication is conducted solely by a genetic counselor (GC). We conducted a retrospective chart review of 211 patient encounters scheduled in the GCC between January 1, 2022 and June 30, 2022 and collected patient demographics, wait time, appointment characteristics, referral indication, and clinical recommendations. To study impact on patient access, we compared patient demographics and appointment characteristics with 912 patient encounters scheduled in the General Genetics Clinic with a geneticist during the same time period. We found that there were not significant differences in patient demographics scheduled in the GCC as compared with the General Genetics Clinic with the exception of insurance type, where patients scheduled in the GCC were more likely to have private insurance. Patients scheduled in the GCC had a significantly shorter wait time, were more likely to complete their appointment, were more often new to the genetics division, and were more likely to be seen via telehealth (audio plus video or audio-only) as compared with patients scheduled in the General Genetics Clinic. The most common indications for patients scheduled in the GCC were post-test counseling (36.0%) followed by pre-test counseling and coordination of testing (22.3%), and first-line testing for autism, intellectual disability, and developmental delay (13.7%). Completed appointments in the GCC often resulted in the GC ordering genetic testing (67.5%). After genetic testing results were received, most patients (72.7%) did not require subsequent follow-up with the genetics division, thereby reducing burden to the medical genetics team. Our GCC increased access to genetic services and allowed GCs and clinical geneticists to better work at the top of their scope of practice.
辛辛那提儿童医院医疗中心(CCHMC)开设了遗传咨询诊所(GCC),其中针对一般遗传指征的预约仅由遗传咨询师(GC)进行。我们对 2022 年 1 月 1 日至 2022 年 6 月 30 日期间在 GCC 安排的 211 例患者就诊进行了回顾性图表审查,并收集了患者人口统计学、等待时间、预约特征、转诊指征和临床建议。为了研究对患者就诊的影响,我们将 GCC 中与遗传学家预约的 912 例患者的人口统计学和预约特征与同期在普通遗传诊所就诊的患者进行了比较。我们发现,在 GCC 中预约的患者与在普通遗传诊所中预约的患者在人口统计学方面没有显著差异,除了保险类型,在 GCC 中预约的患者更有可能拥有私人保险。与在普通遗传诊所中预约的患者相比,在 GCC 中预约的患者等待时间明显缩短,更有可能完成预约,他们更有可能是首次就诊遗传科,更有可能通过远程医疗(音频加视频或仅音频)就诊。与在普通遗传诊所中预约的患者相比,在 GCC 中预约的患者最常见的指征是检测后咨询(36.0%),其次是检测前咨询和检测协调(22.3%),以及自闭症、智力障碍和发育迟缓的一线检测(13.7%)。在 GCC 完成预约的患者通常会导致 GC 安排进行基因检测(67.5%)。收到基因检测结果后,大多数患者(72.7%)无需再到遗传科就诊,从而减轻了医学遗传学团队的负担。我们的 GCC 增加了获得遗传服务的机会,并使 GC 和临床遗传学家能够更好地在其实践范围的顶端工作。